IMPORTANCE Describing the association with human leukocyte antigen (HLA) alleles could facilitate the understanding of increased risk factors for development of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) in patients with severe ocular complications (SOCs). OBJECTIVE To investigate the association between HLA class I genes and cold medicine (CM)-associated SJS/TEN with SOCs. DESIGN, SETTING, AND PARTICIPANTS This case-control study was conducted between February 8, 2013, and August 29, 2014. Thirty-nine Brazilian patients with CM-SJS/TEN of 74 patients with SJS/TEN with SOCs and 133 healthy Brazilian volunteers were enrolled. Human leukocyte antigen class I genes (HLA-A, HLA-B, and HLA-C) were examined to determine whether there was a genetic predisposition for CM-SJS/TEN with SOC. Patients were interviewed to identify possible etiologic factors. Data analysis was performed from April 14, 2013, to August 29, 2014. MAIN OUTCOMES AND MEASURES Genetic predisposition for CM-SJS/TEN with SOCs by analysis of HLA class I genes.
RESULTSOf 74 patients included in the analysis, 32 (43%) were male; mean (SD) age was 36.
RESUMENObjetivo: Para comparar los efectos de la aplicación de las hamacas en los bebés prematuros después de cambiarles pañales, en comparación con el nido. Métodos: investigación casi experimental, cruzada con 30 recién nacidos prematuros en una unidad de cuidados intermedios en un hospital público en Brasilia-DF, a partir de noviembre de 2011 a marzo de 2012. Los efectos de las dos intervenciones (nido y la hamaca) después de cambiar pañales. Para el análisis de datos se utilizó la prueba t de Student con un nivel de confianza del 95% (p <0,05). Resultados: prematuros cuando posicionados en hamaca, estaban menos estresados (p = 0,002), tenían menos características definitorias para el diagnóstico de enfermería "Comportamiento Desorganizado del Bebé" (p = 0,05) y se mantuvo en la postura terapéutica en relación con el nido (p = 0,04). Conclusión: en comparación con el nido, los prematuros posicionados en hamaca estaban menos estresados, más organizados y con mejor posicionamiento terapéutico. Palabras clave: Prematuro. Posicionamiento del paciente. Estrés fisiológico.Costa KSF, Beleza LO, Souza LM, Ribeiro LM 2 Rev Gaúcha Enferm. 2016;37(spe):e62554
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing. CRB1 is one of many genes analyzed in molecular diagnosis for inherited retinal dystrophy. Crumbs homolog-1 protein encoded by CRB1 is important for cell-to-cell contact, polarization of epithelial cells and the morphogenesis of photoreceptors. Pathogenic variants in CRB1 lead to a huge variety of phenotypes ranging from milder forms of inherited retinal dystrophy, such as retinitis pigmentosa to more severe phenotypes such as Leber congenital amaurosis. In this study, seven novel likely-pathogenic variants were identified: four missense variants (p.Leu479Pro, p.Ala921Pro, p.Cys948Arg and p.Asp1031Asn), two frameshift deletions (c.2536_2542del7 and c.3460_3461delTG) and one frameshift indel variant (c.276_294delinsTGAACACTGTAC). Furthermore, two patients with cone-rod dystrophy due to mutations in CRB1 were reported, supporting previous data, in which mutations in CRB1 can also cause cone-rod dystrophy. Finally, our data suggested there was a direct relation between phenotype severity and the mutation effect on protein functionality in 15 Brazilian CRB1 patients.
Objective:to analyze the cohort profile of at-risk newborns attended by nurses in a
multidisciplinary follow-up clinic, with emphasis on the type of feeding and
weight gain, after hospital discharge. Method:retrospective cohort, whose population is composed of at-risk newborns
attended in a 4-year period. Data came from medical records and attendance
report, later exported to R Program. The outcome variables were number of
the nursing consultation, type of feeding, daily weight gain and main
guidelines. We used descriptive statistics, frequency distribution and
applied Mann-Whitney, Chi-Square, Spearman correlation, Variance and Tukey
analysis, with p <0.05 being significant. Results:a total of 882 consultations with 629 infants and families were analyzed. The
frequencies of exclusive breastfeeding and weight gain increased as the
consultations progressed. The infants who needed more consultations and with
lower weight gain were those with lower gestational age (p = 0.001) and
birth weight (p = 0.000), longer length of hospital stay (p <0.005), and
diagnoses related to extreme prematurity (p <0.05), among others. Conclusion:nurses verified the importance of outpatient follow-up of at-risk newborns,
especially in promoting breastfeeding and healthy growth.
Objective: To compare the physiological variables and the sleep-wake pattern presented by preterm in nesting and hammock positions after diaper change. Method: This is a crossover randomized controlled trial. It was conducted with 20 preterm infants who, after diaper change, were placed in nests or hammocks. These preterm infants were evaluated for physiological variables (heart rate and oxygen saturation) and behavioral variables (sleep and wakefulness). Results: There was no statistically significant difference in the studied variables between nesting and hammock positions. However, regarding the categorical variable sleep, the comparison between the research phases for the hammock position showed differences between the baseline phase and the immediate recovery (p=0.00), baseline and late recovery (p=0.00), response and immediate recovery (p=0.00), response and late recovery (p=0.00). Conclusion: No differences were identified between the nest and the hammock; however, the use of the hammock favored the sleep of preterm infants compared to its non-use.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.